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    CFAP418 cilia and flagella associated protein 418 [ Homo sapiens (human) ]

    Gene ID: 157657, updated on 11-Jun-2021

    Summary

    Official Symbol
    CFAP418provided by HGNC
    Official Full Name
    cilia and flagella associated protein 418provided by HGNC
    Primary source
    HGNC:HGNC:27232
    See related
    Ensembl:ENSG00000156172 MIM:614477
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP64; BBS21; MOT25; CORD16; FAP418; C8orf37; smalltalk
    Summary
    This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in ovary (RPKM 1.7), brain (RPKM 1.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See CFAP418 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (95244913..95269201, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96257141..96281429, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene long intergenic non-protein coding RNA 1298 Neighboring gene CFAP418 antisense RNA 1 Neighboring gene tRNA-Ser (anticodon AGA) 2-5 Neighboring gene RNA, U6 small nuclear 690, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 21
    MedGen: C4319932 OMIM: 617406 GeneReviews: Not available
    Compare labs
    Cone-rod dystrophy 16 Compare labs
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Retinitis pigmentosa Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30600

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in photoreceptor cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in photoreceptor inner segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    protein C8orf37
    Names
    Bardet-Biedl syndrome 21

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032804.1 RefSeqGene

      Range
      5034..29322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363260.1NP_001350189.1  protein C8orf37 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA897574, AP003466, DA473498, DB205618
      Conserved Domains (1) summary
      pfam14996
      Location:63175
      RMP; Retinal Maintenance
    2. NM_177965.4NP_808880.1  protein C8orf37 isoform 1

      See identical proteins and their annotated locations for NP_808880.1

      Status: REVIEWED

      Source sequence(s)
      AA897574, AP003466, DA473498, DB205618
      Consensus CDS
      CCDS6268.1
      UniProtKB/Swiss-Prot
      Q96NL8
      Related
      ENSP00000286688.5, ENST00000286688.6
      Conserved Domains (1) summary
      pfam14996
      Location:63207
      RMP; Retinal Maintenance

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      95244913..95269201 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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